Hermansky-Pudlak综合征-罕见的10型AP3D1突变。

IF 0.4 Q3 MEDICINE, GENERAL & INTERNAL

Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI:10.1093/omcr/omaf184

Vijayakumar Balaraddi, Ketaki Nawlakhe, Shilpa K, Prathik Bandiya

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引用次数: 0

摘要

患有眼皮肤白化病的新生儿如果表现出额外的全身累及，需要提高临床警惕并及时进行基因检测。这是一例病态畸形晚期早产新生儿伴眼皮肤白化病，肝脾肿大，小头畸形，中枢性张力低下和严重脑病，自出生以来出现。遗传分析显示AP3D1基因突变提示Hermansky-Pudlak综合征（HPS） 10型。HPS患者严重的神经系统受累高度提示为10型，表明预后不良。本病例报告旨在全面介绍患者的临床过程，并提供可能适用于此类类似新生儿病例的预后见解和指导。

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Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.

Neonates with oculocutaneous albinism who exhibit additional systemic involvement need heightened clinical vigilance and prompt genetic testing. This is a case of a sick dysmorphic late preterm neonate with oculocutaneous albinism, hepatosplenomegaly, microcephaly, central hypotonia and severe encephalopathy, presenting since birth. Genetic analysis revealed AP3D1 gene mutation suggestive of Hermansky-Pudlak Syndrome (HPS) type 10. Severe neurological involvement in HPS is highly suggestive of type 10, indicating poor outcome. This case report aims to give a comprehensive account of the patient's clinical course and offer prognostic insights and guidance that may be applicable to such analogous neonatal cases.

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来源期刊

Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.90

自引率

0.00%

发文量

125

审稿时长

19 weeks

期刊介绍： Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.